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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.06.009DOIGoogle ScholarPubMed
Read more
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.06.009DOIGoogle ScholarPubMed
Read more
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.06.009DOIGoogle ScholarPubMed
Read more
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.06.009DOIGoogle ScholarPubMed
Read more
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt M, Ebstein F, et al. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101119. doi:10.1016/j.gim.2024.101119DOIGoogle ScholarPubMed
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Identification of a mutation in associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, et al. Identification of a mutation in associated with a neurodevelopmental disorder and immunodeficiency. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.08.22.23294267DOIGoogle ScholarPubMed
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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Ahmad N, Fazeli W, Schließke S, et al. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children. Pediatric neurology. 2023;148:164-171. doi:10.1016/j.pediatrneurol.2023.08.023DOIGoogle ScholarPubMed
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SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, et al. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain : a journal of neurology. 2023. doi:10.1093/brain/awad292DOIGoogle ScholarPubMed
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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, et al. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100950. doi:10.1016/j.gim.2023.100950DOIGoogle ScholarPubMed
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Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Iqbal S, Brünger T, Pérez-Palma E, et al. Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain : a journal of neurology. 2023;146(2):519-533. doi:10.1093/brain/awac381DOIGoogle ScholarPubMed
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In March of 2020, Broad Institute converted a clinical genetics processing lab into a large-scale COVID-19 testing facility in less than two weeks.

We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap).

Broad Genomics Platform sequences a whole human genome every four minutes.

More than 11,000 individuals living with cancer in the United States and Canada have partnered with Count Me In to share their experiences and help accelerate cancer research.

The Drug Repurposing Hub is one of the most comprehensive and up-to-date biologically annotated collections of FDA-approved compounds in the world. Researchers anywhere can explore more than 6,000 drugs in the hub and search for possible new uses for them to jump-start new drug discovery.

In 2021, our sustainability efforts sent more than 80 percent of waste from the Genomics Platform to either a recycling facility or to an incineration plant that generates electricity.

Through Broad's Scientists in the Classroom program, Broad researchers visit every 8th grade classroom in Cambridge each year to talk about genetics and evolution.

Every summer, 18 high school students spend six weeks at Broad working side-by-side with mentors on cutting-edge research.

In November 2022, Broad’s Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th.

By the end of 2022, Broad’s COVID-19 testing lab had processed more than 37 million tests.

Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries.

The NeuroGAP-Psychosis project, a collaboration between the Stanley Center for Psychiatric Research and Harvard T.H. Chan School of Public Health to study the genetics of severe mental illness, has recruited more than 42,000 participants in Ethiopia, Kenya, Uganda, and South Africa.

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